{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:38:03Z","timestamp":1771004283084,"version":"3.50.1"},"reference-count":29,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","pathologyjournal.rcpa.edu.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pathology"],"published-print":{"date-parts":[[2012,6]]},"DOI":"10.1097\/pat.0b013e328353a117","type":"journal-article","created":{"date-parts":[[2012,4,24]],"date-time":"2012-04-24T18:32:46Z","timestamp":1335292366000},"page":"337-341","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["A molecular tool to assess the pathological relevance of alpha-globin DNA variants"],"prefix":"10.1016","volume":"44","author":[{"given":"Talal","family":"Qadah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Finlayson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Newbound","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Pell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Jennens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Holmes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dianne","family":"Grey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Beilby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Ghassemifar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1097\/PAT.0b013e328353a117_bib0005","doi-asserted-by":"crossref","first-page":"123","DOI":"10.3109\/03630261003679854","article-title":"Two new alphal-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala\u2192Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met\u2192Lys]","volume":"34","author":"Phylipsen","year":"2010","journal-title":"Hemoglobin"},{"key":"10.1097\/PAT.0b013e328353a117_bib0010","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/GIM.0b013e3181fcb468","article-title":"Gene test review. Alpha-thalassemia","volume":"13","author":"Galanello","year":"2011","journal-title":"Genet Med"},{"key":"10.1097\/PAT.0b013e328353a117_bib0015","series-title":"The Thalassaemia Syndromes.","author":"Weatherall","year":"2001"},{"key":"10.1097\/PAT.0b013e328353a117_bib0020","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1172\/JCI110273","article-title":"Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin in normals and alpha-thalassemics","volume":"68","author":"Liebhaber","year":"1981","journal-title":"J Clin Invest"},{"key":"10.1097\/PAT.0b013e328353a117_bib0025","series-title":"Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management","author":"Steinberg","year":"2009"},{"key":"10.1097\/PAT.0b013e328353a117_bib0030","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-5-13","article-title":"Alpha-thalassaemia","volume":"5","author":"Harteveld","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1097\/PAT.0b013e328353a117_bib0035","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1182\/blood-2004-07-2792","article-title":"Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies","volume":"105","author":"Steensma","year":"2005","journal-title":"Blood"},{"key":"10.1097\/PAT.0b013e328353a117_bib0040","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1080\/03630260600755351","article-title":"Hb Bleuland [alpha108(G15)- Thr(Asn, ACC(AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype","volume":"30","author":"Harteveld","year":"2006","journal-title":"Hemoglobin"},{"key":"10.1097\/PAT.0b013e328353a117_bib0045","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/24.17.3439","article-title":"Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information","volume":"24","author":"Hebsgaard","year":"1996","journal-title":"Nucleic Acids Res"},{"key":"10.1097\/PAT.0b013e328353a117_bib0050","doi-asserted-by":"crossref","first-page":"3784","DOI":"10.1093\/nar\/gkg563","article-title":"ExPASy: The proteomics server for in-depth protein knowledge and analysis","volume":"31","author":"Gasteiger","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1097\/PAT.0b013e328353a117_bib0055","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1177\/0885328209104289","article-title":"Advancing towards a tissue-engineered tympanic membrane: silk fibroin as a substratum for growing human eardrum keratinocytes","volume":"24","author":"Ghassemifar","year":"2010","journal-title":"J Biomater Appl"},{"key":"10.1097\/PAT.0b013e328353a117_bib0060","doi-asserted-by":"crossref","first-page":"11","DOI":"10.3109\/07853899309147851","article-title":"Human gene mutations affecting RNA processing and translation","volume":"25","author":"Cooper","year":"1993","journal-title":"Ann Med"},{"key":"10.1097\/PAT.0b013e328353a117_bib0065","doi-asserted-by":"crossref","first-page":"D86","DOI":"10.1093\/nar\/gkq887","article-title":"DBASS3 and DBASS5: databases of aberrant 3\u2019- and 5\u2019-splice sites","volume":"39","author":"Buratti","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1097\/PAT.0b013e328353a117_bib0070","doi-asserted-by":"crossref","first-page":"556","DOI":"10.2174\/138920208786847971","article-title":"Alternative splicing and tumor progression","volume":"9","author":"Ghigna","year":"2008","journal-title":"Curr Genomics"},{"key":"10.1097\/PAT.0b013e328353a117_bib0075","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S1383-5742(98)00013-1","article-title":"Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum","volume":"411","author":"O\u2019Neill","year":"1998","journal-title":"Mutat Res"},{"key":"10.1097\/PAT.0b013e328353a117_bib0080","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1101\/gad.1048803","article-title":"Pre-mRNA splicing and human disease","volume":"17","author":"Faustino","year":"2003","journal-title":"Genes Dev"},{"key":"10.1097\/PAT.0b013e328353a117_bib0085","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1093\/molbev\/msi100","article-title":"The evolution of transcription-initiation sites","volume":"22","author":"Lynch","year":"2005","journal-title":"Mol Biol Evol"},{"key":"10.1097\/PAT.0b013e328353a117_bib0090","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1038\/sj.emboj.7600274","article-title":"Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2","volume":"23","author":"Anguita","year":"2004","journal-title":"EMBO J"},{"key":"10.1097\/PAT.0b013e328353a117_bib0095","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1532\/IJH97.04180","article-title":"GATA transcription factors in hematologic disease","volume":"81","author":"Cantor","year":"2005","journal-title":"Int J Hematol"},{"key":"10.1097\/PAT.0b013e328353a117_bib0100","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1007\/s10495-005-0623-y","article-title":"Hematopoietic transcription factor GATA-2 promotes upregulation of alpha globin and cell death in FL5.12 cells","volume":"10","author":"Brecht","year":"2005","journal-title":"Apoptosis"},{"key":"10.1097\/PAT.0b013e328353a117_bib0105","doi-asserted-by":"crossref","first-page":"5168","DOI":"10.1128\/MCB.00482-09","article-title":"GATA-2 reinforces megakaryocyte development in the absence of GATA-1","volume":"29","author":"Huang","year":"2009","journal-title":"Mol Cell Biol"},{"key":"10.1097\/PAT.0b013e328353a117_bib0110","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1203\/00006450-199410000-00001","article-title":"Erythroid transcription factor NF-E2 coordinates hemoglobin synthesis","volume":"36","author":"Andrews","year":"1994","journal-title":"Pediatr Res"},{"key":"10.1097\/PAT.0b013e328353a117_bib0115","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/S1357-2725(97)00135-0","article-title":"The NF-E2 transcription factor","volume":"30","author":"Andrews","year":"1998","journal-title":"Int J Biochem Cell Biol"},{"key":"10.1097\/PAT.0b013e328353a117_bib0120","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1101\/gr.106575.110","article-title":"A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells","volume":"20","author":"Tallack","year":"2010","journal-title":"Genome Res"},{"key":"10.1097\/PAT.0b013e328353a117_bib0125","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1111\/j.1365-2141.2010.08130.x","article-title":"Regulation of the human HBA genes by KLF4 in erythroid cell lines","volume":"149","author":"Marini","year":"2010","journal-title":"Br J Haematol"},{"key":"10.1097\/PAT.0b013e328353a117_bib0130","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1111\/j.1365-2141.1993.tb08658.x","article-title":"An IVS-I-117 (G(A) acceptor splice site mutation in the alpha 1-globin gene is a nondeletional alpha-thalas- saemia-2 determinant in an Indian population","volume":"85","author":"Curuk","year":"1993","journal-title":"Br J Haematol"},{"key":"10.1097\/PAT.0b013e328353a117_bib0135","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/ajh.10385","article-title":"Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects","volume":"74","author":"Harteveld","year":"2003","journal-title":"Am J Hematol"},{"key":"10.1097\/PAT.0b013e328353a117_bib0140","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/sj.ejhg.5201649","article-title":"Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease","volume":"14","author":"Khajavi","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1097\/PAT.0b013e328353a117_bib0145","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1080\/03630260802173833","article-title":"Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia","volume":"32","author":"Wajcman","year":"2008","journal-title":"Hemoglobin"}],"container-title":["Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0031302516325211?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0031302516325211?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T16:16:38Z","timestamp":1758471398000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0031302516325211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["S0031302516325211"],"URL":"https:\/\/doi.org\/10.1097\/pat.0b013e328353a117","relation":{},"ISSN":["0031-3025"],"issn-type":[{"value":"0031-3025","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A molecular tool to assess the pathological relevance of alpha-globin DNA variants","name":"articletitle","label":"Article Title"},{"value":"Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1097\/PAT.0b013e328353a117","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}